Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 3011, Oviedo, Spain.
Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 3011, Oviedo, Spain; Servicio de Neurología. Hospital Universitario Central de Asturias (HUCA), 3011, Oviedo, Spain.
Parkinsonism Relat Disord. 2023 Feb;107:105282. doi: 10.1016/j.parkreldis.2023.105282. Epub 2023 Jan 11.
Deep brain stimulation of the subthalamic nucleus (STN-DBS) is the most common surgical treatment for Parkinson's disease (PD). Patient selection and genetic background can modify the response to this treatment. The objective of this study was to compare both clinical and pharmacologic response of STN-DBS between patients with monogenic forms of PD and non-mutation carriers with idiopathic PD.
A retrospective analysis among 23 carriers of genetic mutations (8 PRKN and 15 LRRK2) and 74 patients with idiopathic PD was performed. The study included comparisons of Unified Parkinson's Disease Rating Scale (UPDRS) II and III scores, Schwab and England (S&E) scale values, Hoehn & Yahr (H&Y) stage scores, and equivalent doses of levodopa before and after the surgery (at 6 and 12 months) between both groups.
The mean age at the time in which STN-DBS was performed was 59.5 ± 8.6. Linear mixed models showed the absence of statistically significant differences between mutation and non-mutation carriers regarding levodopa doses (p = 0.576), UPDRS II (p = 0.956) and III (p = 0.512) scores, and S&E scale scores (0.758). The only difference between the two groups was observed with respect to H&Y stage in OFF medication/ON stimulation status being lower in genetic PD at 6 months after surgery (p = 0.030).
Clinical and pharmacological benefit of bilateral STN-DBS is similar in PRKN and LRRK2 mutation carriers and patients with idiopathic PD.
丘脑底核深部脑刺激（STN-DBS）是治疗帕金森病（PD）最常见的手术方法。患者选择和遗传背景可以改变对这种治疗的反应。本研究的目的是比较携带单基因突变的 PD 患者和特发性 PD 非突变携带者的 STN-DBS 的临床和药物反应。
对 23 名基因突变携带者（8 名 PRKN 和 15 名 LRRK2）和 74 名特发性 PD 患者进行了回顾性分析。研究比较了两组患者术前和术后（6 个月和 12 个月）的统一帕金森病评定量表（UPDRS）II 和 III 评分、施瓦布和英格兰（S&E）量表评分、Hoehn & Yahr（H&Y）分期评分和左旋多巴等效剂量。
行 STN-DBS 时的平均年龄为 59.5±8.6 岁。线性混合模型显示，突变携带者和非突变携带者之间在左旋多巴剂量（p=0.576）、UPDRS II（p=0.956）和 III（p=0.512）评分以及 S&E 量表评分（0.758）方面无统计学差异。两组唯一的差异是在手术 6 个月后，非药物刺激状态下的 H&Y 分期，遗传 PD 组较低（p=0.030）。
PRKN 和 LRRK2 突变携带者与特发性 PD 患者双侧 STN-DBS 的临床和药物获益相似。
